Description |
Case-level, family segregation, or case-control data that support the gene-disease association
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Gene-level experimental evidence that support the gene-disease association |
Sum of Genetic & Experimental
Evidence
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> 2 pubs w/ convincing evidence over time (>3 yrs) |
EVIDENCE SUMMARY |
There is a definitive association between alteration of the BRAF gene and a CFC phenotype. The maximum amount of scorable genetic evidence has been published showing de novo as well as non-de novo variants occur in BRAF in patients with CFC syndrome (Gripp et al., 2007; Louati et al., 2014; Makita et al., 2007; Mucciolo, Dello Russo, D'Emidio, Mesoraca, & Giorlandino, 2016; Narumi et al., 2007; Niihori et al., 2006; Rodriguez-Viciana, Tetsu, et al., 2006). The BRAF gene is located in the Ras/MAPK pathway which is associated with the Noonan phenotype and variants found in CFC patients in this gene disrupt the RAS pathway function as demonstrated by both mouse and zebrafish models (Anastasaki, Estep, Marais, Rauen, & Patton, 2009; Aoki et al., 2016; Moriya et al., 2015; Rauen, 2013).
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